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Journal of Inherited Metabolic Disease|August 19, 2006
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skippingG Maydan, B S Andresen, P P Madsen, et al.Journal of Inherited Metabolic Disease|September 22, 2006
Large neutral amino acids in the treatment of phenylketonuria (PKU)R Matalon, K Michals-Matalon, G Bhatia, et al.Journal of Inherited Metabolic Disease|July 14, 2006
Mitochondrial complex I: structure, function and pathologyRolf J R J Janssen, Leo G Nijtmans, Lambert P van den Heuvel, et al.Journal of Inherited Metabolic Disease|October 17, 2006
Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case reportS I Pascual-Pascual, P Rubio, L Albajara, et al.Journal of Inherited Metabolic Disease|October 17, 2006
Mutational spectrum of classical galactosaemia in Spain and PortugalL Gort, M D Boleda, L Tyfield, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patternsA H Lipson, J W Earl, B Wilcken, et al.Journal of Inherited Metabolic Disease|October 26, 2007
Unsuccessful treatment attempt: cord blood stem cell transplantation in a patient with Niemann-Pick disease type AC F Morel, A Gassas, J Doyle, et al.Journal of Inherited Metabolic Disease|July 25, 2008
Phenotypic spectrum of fucosidosis in TunisiaH Ben Turkia, N Tebib, H Azzouz, et al.Journal of Inherited Metabolic Disease|June 28, 2006
Ornithine transcarbamoylase deficiency presenting with acute liver failureAhlam Mustafa, Joe T R ClarkeJournal of Inherited Metabolic Disease|July 4, 2006
Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry diseaseGregory Bierer, David Balfe, William R Wilcox, et al.Pageof 429